Skip to main content

Table 2 PRNP gene sequence variation in sCJD cases and controls

From: PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism

PRNPVariation

309 sCJD Patients

192 UK DNA Controls

778 Scottish Blood Donor Controls

Codon 129 (Met/Val)

MM (n = 184; 59.5%)

MV (n = 66; 21.4%)

VV (n = 59; 19.1%)

MM (n = 90; 46.9%)

MV (n = 87; 45.3%)

VV (n = 15; 7.8%)

MM (n = 337; 43.3%)

MV (n = 344; 44.2%)

VV (n = 97; 12.5%)

Codon 117 (Ala/Ala)

n = 13; 4.2%

(10.4% of MV/VV cases)

n = 9; 4.7%

(10.3% of MV/VV cases)

n = 47; 6.0%

(10.7% of MV/VV cases)

24 bp Deletion

n = 4; 1.3%

Deletion Class

R34 (n = 3)

R3 (n = 1)

n = 1; 0.5%

Deletion Class

R2 (n = 1)

n = 12; 1.5%

Deletion Class

R34 (n = 12)

Codon 167

(Asp/Gly)

DG (n = 1; 0.32%)

(no sequence data available)

(no sequence data available)

Codon

68

(Pro/Pro)

PP (n = 1; 0.32%)

(no sequence data available)

(no sequence data available)